AiPD: Autoinhibited Protein Database

Q8N5J2

Gene name	MINDY1
Protein name	Ubiquitin carboxyl-terminal hydrolase MINDY-1
Names	Deubiquitinating enzyme MINDY-1, Protein FAM63A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55793
EC number	3.4.19.12: Omega peptidases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

62-134 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

62-134 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

9 structures for Q8N5J2

Entry ID	Method	Resolution	Chain	Position	Source
5JKN	X-ray	300 A	A	110-384	PDB
5JQS	X-ray	265 A	A	110-384	PDB
5MN9	X-ray	205 A	C	388-426	PDB
6TUV	X-ray	216 A	A	110-384	PDB
6TXB	X-ray	218 A	A	110-384	PDB
6Y6R	X-ray	332 A	A	110-384	PDB
6YJG	X-ray	328 A	A	97-384	PDB
6Z90	X-ray	359 A	A	110-384	PDB
AF-Q8N5J2-F1	Predicted				AlphaFoldDB

357 variants for Q8N5J2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA341901945 rs1222891836	2	E>A		No	ClinGen TOPMed
rs1558058562 CA341901947	2	E>K		No	ClinGen Ensembl
rs1213710325 CA341901939	3	Y>H		No	ClinGen gnomAD
CA1083607 CA341901926 rs765321814	4	H>Q		No	ClinGen ExAC gnomAD
CA341901912 rs1273970890	6	P>L		No	ClinGen gnomAD
CA341901900 rs1477569622	8	D>A		No	ClinGen gnomAD
CA1083606 rs761963907	9	P>S		No	ClinGen ExAC TOPMed
CA341901879 rs1235401675	11	P>L		No	ClinGen gnomAD
CA29500316 rs953860428	12	G>D		No	ClinGen Ensembl
rs1383198563 CA341901863	14	A>D		No	ClinGen gnomAD
rs1029819173 CA29500315	14	A>P		No	ClinGen gnomAD
CA29500314 rs979691570	15	G>R		No	ClinGen TOPMed gnomAD
rs149992004 CA1083603	17	A>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	20	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435757518 CA341901828	20	V>I		No	ClinGen TOPMed
CA341901791 rs1416766913	25	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	26	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	27	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA29500313 rs887952259	29	A>E		No	ClinGen Ensembl
rs770582089 CA1083598	32	D>V		No	ClinGen ExAC gnomAD
CA1083597 rs587731863	34	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA29500312 rs914087464	34	H>Y		No	ClinGen TOPMed gnomAD
CA29500311 rs1027737631	35	P>A		No	ClinGen Ensembl
rs1464464726 CA341901723	36	Q>*		No	ClinGen gnomAD
rs772982446 CA1083596	38	T>I		No	ClinGen ExAC gnomAD
CA1083595 rs769377116	39	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1083594 rs372349043	39	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341901703 rs769377116	39	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA29500310 rs895264544	40	A>V		No	ClinGen Ensembl
rs41310885 CA1083591 CA1083592	41	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757324132 CA1083589	45	G>R		No	ClinGen ExAC gnomAD
CA1083588 rs753976977	46	E>K		No	ClinGen ExAC gnomAD
rs777445946 CA1083587	47	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1317920461 CA341901651	47	A>V		No	ClinGen gnomAD
CA341901650 rs1407363043	48	R>G		No	ClinGen TOPMed
CA1083586 rs587750508	48	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341901648 rs587750508	48	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	49	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201811445 CA1083583 COSM675506	50	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs767240578 CA1083584	50	R>W		No	ClinGen ExAC TOPMed gnomAD
rs374440338 CA29500309	53	A>G		No	ClinGen ESP TOPMed
rs1269144393 CA341901613	54	D>H		No	ClinGen TOPMed
TCGA novel	54	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336863954 CA341901582	58	L>P		No	ClinGen TOPMed
CA1083580 rs762525542	59	P>L		No	ClinGen ExAC gnomAD
rs1229688689 CA341901546	63	G>V		No	ClinGen TOPMed
CA341901540 rs1359214057	64	D>G		No	ClinGen TOPMed
rs1359214057 CA341901542	64	D>V		No	ClinGen TOPMed
CA341901521 rs1220658481	67	E>*		No	ClinGen TOPMed
CA1083579 rs200227186	67	E>D		No	ClinGen 1000Genomes ExAC
TCGA novel	67	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1042338222 CA29500307	67	E>V		No	ClinGen Ensembl
TCGA novel	68	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs962401679 CA29500306	68	S>T		No	ClinGen TOPMed
CA341901487 rs1193098616	73	A>T		No	ClinGen TOPMed
CA341901477 rs1196635943	74	S>T		No	ClinGen gnomAD
CA341901469 rs1481796100	75	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA341901468 rs1481796100	75	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA29500305 rs1017287686	76	A>P		No	ClinGen TOPMed
rs747775903 CA1083577	76	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772326507 CA1083575	78	P>A		No	ClinGen ExAC gnomAD
CA1083574 rs148438333	78	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341901445 rs1329066256	80	P>S		No	ClinGen gnomAD
CA341901437 rs1392793229	81	T>I		No	ClinGen gnomAD
CA341901438 rs1392793229	81	T>S		No	ClinGen gnomAD
CA1083570 rs138505497	89	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377475564 CA1083569	95	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767279063 CA1083567	96	M>K		No	ClinGen ExAC gnomAD
rs752879665 CA1083568	96	M>V		No	ClinGen ExAC gnomAD
CA341901339 rs1182686580	97	P>T		No	ClinGen gnomAD
CA1083565 rs751444623	102	Q>P		No	ClinGen ExAC gnomAD
rs866790487 CA29500302	103	S>F		No	ClinGen TOPMed
rs908184759 CA1083562	105	R>G		No	ClinGen TOPMed
rs568475469 CA29500300	106	T>I		No	ClinGen gnomAD
CA1083561 rs763013335	107	R>*		No	ClinGen ExAC gnomAD
CA341901274 rs749897207	107	R>L		No	ClinGen ExAC TOPMed
COSM1185591 rs749897207 CA1083560	107	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA1083559 rs764665925	108	Q>*		No	ClinGen ExAC gnomAD
rs776143044 CA341901251	111	P>A		No	ClinGen ExAC TOPMed gnomAD
rs776143044 CA1083557	111	P>S		No	ClinGen ExAC TOPMed gnomAD
rs377539615 CA29500299	114	Y>C		No	ClinGen gnomAD
CA1083556 rs768355484	114	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs377539615 CA341901229	114	Y>S		No	ClinGen gnomAD
rs1205077810 CA341901224	115	C>R		No	ClinGen TOPMed
CA341901221 rs1385633976	115	C>Y		No	ClinGen gnomAD
CA1083554 rs142215084	118	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1083553 rs771387971	119	I>L		No	ClinGen ExAC
CA1083551 rs201864337	119	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341901178 rs1242574050	121	W>*		No	ClinGen TOPMed
CA1083549 rs587740756	124	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA1083548 rs748329563	125	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA341901138 rs1185928658	127	P>H		No	ClinGen gnomAD
rs1442315137 CA341901116	130	T>I		No	ClinGen gnomAD
CA341901111 rs1180727598	131	Q>R		No	ClinGen TOPMed
rs781261460 CA1083547	132	S>I		No	ClinGen ExAC gnomAD
CA1083545 rs751356541	133	T>P		No	ClinGen ExAC
CA1083543 rs758351080	135	G>S		No	ClinGen ExAC TOPMed gnomAD
rs750330879 CA1083542	137	C>F		No	ClinGen ExAC gnomAD
rs765284042 CA1083541	138	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	138	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369882873 CA1083540	140	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320219086 CA341901046	142	I>V		No	ClinGen gnomAD
rs763705408 CA1083538	143	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1571729046 CA341901026	144	N>K		No	ClinGen Ensembl
rs760353041 CA1083537	145	I>F		No	ClinGen ExAC gnomAD
rs760353041 CA341901023	145	I>V		No	ClinGen ExAC gnomAD
CA341900981 rs1424350081	151	K>Q		No	ClinGen gnomAD
rs150251845 CA1083523	153	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs952367512 CA29500268	156	P>A		No	ClinGen TOPMed
rs1040245529 CA29500267 COSM1498079	156	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs763617620 CA1083516	160	V>G		No	ClinGen ExAC TOPMed
CA1083515 rs587644585	161	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341900901 rs1344191133	161	I>T		No	ClinGen TOPMed gnomAD
rs587644585 CA341900903	161	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200714354 CA1083513	163	S>*		No	ClinGen ExAC gnomAD
rs200714354 CA1083512	163	S>L		No	ClinGen ExAC gnomAD
rs111642464 CA29500266	167	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1455859589 CA341900864	167	M>T		No	ClinGen TOPMed
rs111642464 CA1083508	167	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1083507 rs768858495	170	L>I		No	ClinGen ExAC gnomAD
CA341900842 rs1304087703	170	L>P		No	ClinGen gnomAD
CA341900839 rs1373328906	171	G>R		No	ClinGen gnomAD
rs747630819 CA1083479	172	N>D		No	ClinGen ExAC gnomAD
rs144531908 CA29500240 COSM1251940	173	C>Y	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA341900807 rs1304911324	174	L>V		No	ClinGen TOPMed
rs751241066 CA1083476	177	I>T		No	ClinGen ExAC gnomAD
rs779972583 CA29500239	177	I>V		No	ClinGen Ensembl
CA1083475 rs746043508	178	K>R		No	ClinGen ExAC TOPMed gnomAD
rs996853298 CA29500238	180	Q>H		No	ClinGen Ensembl
rs757638734 CA1083474	180	Q>R		No	ClinGen ExAC gnomAD
CA341900767 rs1270202401	181	E>K		No	ClinGen gnomAD
CA341900739 rs1294256717	184	E>D		No	ClinGen gnomAD
rs1398225647 CA341900713	188	L>P		No	ClinGen gnomAD
CA1083473 rs754295869	189	N>S		No	ClinGen ExAC gnomAD
TCGA novel	189	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341900700 rs1302788846	190	F>S		No	ClinGen gnomAD
rs145076147 CA1083472	191	Q>H		No	ClinGen ESP ExAC gnomAD
TCGA novel rs958653076 CA29500236	192	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA29500237 rs992432654	192	Q>R		No	ClinGen TOPMed gnomAD
CA341900663 rs1571721755	194	V>M		No	ClinGen Ensembl
rs758175157 CA1083455	195	D>E		No	ClinGen ExAC gnomAD
CA341900655 rs1430201263	195	D>Y		No	ClinGen gnomAD
rs933131379 CA29500170	196	D>N		No	ClinGen TOPMed
CA1083454 rs377369599	198	M>V		No	ClinGen ESP ExAC gnomAD
rs756622366 CA1083452	200	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1083453 rs778313011	200	V>M		No	ClinGen ExAC gnomAD
rs753260477 CA1083451	201	L>R		No	ClinGen ExAC gnomAD
rs1487657791 CA341900610	202	P>L		No	ClinGen gnomAD
rs1228698178 CA341900601	204	L>M		No	ClinGen gnomAD
rs767964781 CA1083449	205	A>S		No	ClinGen ExAC gnomAD
rs751628181 CA1083447	206	T>R		No	ClinGen ExAC gnomAD
CA29500168 rs912526647	207	G>S		No	ClinGen Ensembl
CA1083446 rs766598183	208	L>P		No	ClinGen ExAC TOPMed
rs1384691794 CA341900548	213	R>*		No	ClinGen gnomAD
rs763180581 CA1083445	213	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	215	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571721416 CA341900526	216	G>V		No	ClinGen Ensembl
rs769593812 CA1083443	217	V>I	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1448572462 CA341900508	219	D>E		No	ClinGen TOPMed
rs145467872 CA1083442	219	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341900478 rs1186208860	223	T>I		No	ClinGen TOPMed
CA341900475 rs1167886358	224	P>S		No	ClinGen gnomAD
rs768518414 CA1083440	225	E>K		No	ClinGen ExAC gnomAD
rs1201145019 CA341900461	226	C>Y		No	ClinGen TOPMed gnomAD
rs1431653641 CA341900449	227	S>R		No	ClinGen gnomAD
rs746508026 CA1083439	228	V>I		No	ClinGen ExAC gnomAD
CA341900429 rs374000030	230	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1083438 rs779453457	230	D>H		No	ClinGen ExAC gnomAD
rs778224979 CA1083434	236	L>P		No	ClinGen ExAC gnomAD
rs140386498 CA1083433	237	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748526528 CA1083432	238	H>P		No	ClinGen ExAC gnomAD
CA341900386 rs1558053748	238	H>Y		No	ClinGen Ensembl
rs1018712012 CA29500167	239	G>S		No	ClinGen TOPMed
rs139033003 CA1083431	241	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751605223 CA1083429	242	V>A		No	ClinGen ExAC gnomAD
rs755483762 CA1083430	242	V>I		No	ClinGen ExAC gnomAD
rs79757708 CA29500166	243	D>Y		No	ClinGen Ensembl
rs1158396711 CA341900320	246	S>I		No	ClinGen gnomAD
CA341900293 rs1158869450	250	V>A		No	ClinGen gnomAD
CA1083406 rs750545423	251	R>C		No	ClinGen ExAC gnomAD
rs587726958 CA29500107	251	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs587726958 CA341900288	251	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA341900282 rs1186087455	252	A>V		No	ClinGen gnomAD
rs1210123823 CA341900268	255	K>E		No	ClinGen gnomAD
rs765425777 CA1083405	257	S>G		No	ClinGen ExAC gnomAD
rs1462796427 CA341900234	259	N>K		No	ClinGen TOPMed
CA1083403 rs753629602	260	Q>*		No	ClinGen ExAC gnomAD
CA29500105 rs1021364272	261	L>M		No	ClinGen TOPMed
rs1420756545 CA341900212	263	E>G		No	ClinGen gnomAD
rs1282312580 CA341900216	263	E>K		No	ClinGen gnomAD
CA1083400 rs775554843	264	R>S		No	ClinGen ExAC gnomAD
rs767627973 CA1083399	265	I>F		No	ClinGen ExAC TOPMed gnomAD
rs767627973 COSM1600777 CA341900201	265	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1083398 rs759085186	267	T>N		No	ClinGen ExAC
rs774982413 CA29500103	268	C>*		No	ClinGen TOPMed gnomAD
rs762530804 CA29500104	268	C>F		No	ClinGen TOPMed gnomAD
rs1320145935 CA341900135	274	T>S		No	ClinGen TOPMed gnomAD
rs748921124 CA1083395	275	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1161870567 CA341900125	276	L>F		No	ClinGen TOPMed gnomAD
CA1083394 rs769287826	277	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759525272 CA29500101	279	E>D		No	ClinGen gnomAD
TCGA novel	279	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1083379 rs751070204	280	G>V		No	ClinGen ExAC TOPMed gnomAD
CA29500079 rs200349479	281	L>R		No	ClinGen Ensembl
rs762585378 CA1083377	285	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA341900031 rs1571716642	289	T>P		No	ClinGen Ensembl
CA29500076 rs369386016	291	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1083374 rs761009150	291	A>T		No	ClinGen ExAC TOPMed gnomAD
rs369386016 CA1083373	291	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA29500075 rs138246511	293	Q>*		No	ClinGen ESP TOPMed
CA1083371 rs113120419	295	T>I		No	ClinGen ExAC gnomAD
CA341900000 rs1571716526	295	T>P		No	ClinGen Ensembl
rs749451114 CA1083368	298	G>R		No	ClinGen ExAC TOPMed gnomAD
rs777824543 CA1083367	299	L>P		No	ClinGen ExAC gnomAD
rs756365955 CA1083366	300	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1428351158 CA341899944	303	T>I		No	ClinGen gnomAD
CA341899943 rs1404347593	304	A>T		No	ClinGen gnomAD
rs1571716351 CA341899937	305	A>T		No	ClinGen Ensembl
CA1083362 rs754892523	308	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1083363 rs781162463	308	E>G		No	ClinGen ExAC gnomAD
rs751532553 CA1083361	310	E>K		No	ClinGen ExAC TOPMed gnomAD
rs587598007 CA1083360	311	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs762341074 CA1083359	311	L>P		No	ClinGen ExAC gnomAD
rs1253676949 CA341899894	312	S>R		No	ClinGen gnomAD
CA341899890 rs1571716244	312	S>T		No	ClinGen Ensembl
rs587720999 CA1083357	313	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs150431391 COSM675510 CA1083355	316	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1083354 rs139059568	316	R>Q	Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1223114660 CA341899856	317	N>K		No	ClinGen gnomAD
rs771507332 CA1083352	318	N>K		No	ClinGen ExAC gnomAD
CA341899847 rs1558051373	319	H>N		No	ClinGen Ensembl
CA341899832 rs1474172467	320	F>L		No	ClinGen TOPMed gnomAD
rs587631784 CA1083350	322	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs773360327 CA1083349	323	M>V		No	ClinGen ExAC gnomAD
rs111942686 CA29500074	324	T>A		No	ClinGen gnomAD
rs1248305186 CA341899806	324	T>I		No	ClinGen TOPMed
TCGA novel	324	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs111942686 CA341899809	324	T>S		No	ClinGen gnomAD
CA341899793 rs1449528547	326	H>R		No	ClinGen gnomAD
rs938686806 CA29500073	327	K>E		No	ClinGen TOPMed gnomAD
CA341899767 rs1558049554	328	S>N		No	ClinGen Ensembl
rs1314972524 CA341899761	329	H>Y		No	ClinGen gnomAD
rs1228443785 CA341899742	331	Y>*		No	ClinGen TOPMed gnomAD
CA1083316 rs763711669	334	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	334	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755785154 CA1083315	338	G>R		No	ClinGen ExAC TOPMed gnomAD
CA341899698 rs1295061797	339	F>L		No	ClinGen gnomAD
rs751826879 CA1083314	340	L>V		No	ClinGen ExAC gnomAD
rs766767972 CA1083313	341	Q>K		No	ClinGen ExAC gnomAD
rs1000195456 CA341899665	343	E>D		No	ClinGen TOPMed gnomAD
rs763306760 CA1083312	343	E>K		No	ClinGen ExAC gnomAD
CA341899662 rs1392073565	344	Q>*		No	ClinGen gnomAD
CA1083311 rs587745746	346	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA341899628 rs1193219813	349	S>R		No	ClinGen gnomAD
rs143579361 CA1083310	351	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341899587 rs1478273173	354	D>E		No	ClinGen TOPMed gnomAD
CA341899590 rs1190398407	354	D>G		No	ClinGen TOPMed gnomAD
rs768962659 CA1083307	357	S>R		No	ClinGen ExAC gnomAD
CA1083306 rs760957739	358	C>*		No	ClinGen ExAC gnomAD
rs373663630 CA1083304	361	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA341899522 CA341899523 rs1308458768	363	D>E		No	ClinGen gnomAD
TCGA novel	363	D>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344658435 CA341899528	363	D>N		No	ClinGen gnomAD
CA341899514 rs1411550470	364	F>L		No	ClinGen gnomAD
CA341899470 rs1393258952	371	G>D		No	ClinGen TOPMed
CA341899455 rs1456628072	373	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	376	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439595884 CA341899430	377	E>A		No	ClinGen TOPMed
CA341899427 rs1178534742	378	G>S		No	ClinGen gnomAD
CA1083298 rs777294990	379	G>E		No	ClinGen ExAC
CA341899420 rs1431711467	379	G>R		No	ClinGen TOPMed gnomAD
CA1083297 rs755651613	380	S>C		No	ClinGen ExAC gnomAD
rs775457981 CA1083296	380	S>R		No	ClinGen ExAC gnomAD
rs758782442 CA1083295	382	S>C		No	ClinGen ExAC TOPMed gnomAD
rs758782442 CA1083294	382	S>Y		No	ClinGen ExAC TOPMed gnomAD
VAR_044541 rs2925741 CA1083293	385	T>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341899382 rs2925741	385	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341899383 rs2925741	385	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341899366 rs1230581822	388	Q>*		No	ClinGen gnomAD
rs1571709861 CA341899355	389	V>G		No	ClinGen Ensembl
rs1322443256 CA341899350	390	D>G		No	ClinGen gnomAD
rs780879032 CA1083278	392	D>G		No	ClinGen ExAC
rs1326842832 CA341899324	392	D>H		No	ClinGen gnomAD
CA341899325 rs1326842832	392	D>N		No	ClinGen gnomAD
CA1083277 rs144009129	393	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA341899317 rs1571708195	393	Y>S		No	ClinGen Ensembl
rs1245386253 CA341899309	394	L>P		No	ClinGen gnomAD
rs1571708160 CA341899299	396	A>T		No	ClinGen Ensembl
CA341899297 rs1224185361	396	A>V		No	ClinGen TOPMed
CA341899273 rs1283284937	400	Q>H		No	ClinGen TOPMed
CA1083275 rs779427941	400	Q>R		No	ClinGen ExAC gnomAD
rs757781064 CA1083274	402	Q>H		No	ClinGen ExAC gnomAD
CA1083273 rs754383738	405	R>*		No	ClinGen ExAC TOPMed gnomAD
rs587722731 CA1083272	405	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587722731 CA1083271	405	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1083269 rs767728310	407	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1083270 rs767728310	407	P>R		No	ClinGen ExAC TOPMed gnomAD
CA341899232 rs1419807561	407	P>S		No	ClinGen Ensembl
rs1571707946 CA341899219	410	L>I		No	ClinGen Ensembl
rs1181151478 CA341899209	411	T>S		No	ClinGen gnomAD
CA1083265 rs587767775	412	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1083264 rs587767775	412	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341899198 rs1158360464	413	L>S		No	ClinGen TOPMed
CA341899186 rs1406168997	415	L>V		No	ClinGen TOPMed
rs1444961869 CA341899176	416	A>V		No	ClinGen gnomAD
rs1210269547 CA341899161	418	Q>H		No	ClinGen gnomAD
rs747648667 CA1083262	418	Q>K		No	ClinGen ExAC gnomAD
rs1413060922 CA341899147	420	Q>H		No	ClinGen TOPMed
rs1358304933 CA341899150	420	Q>R		No	ClinGen TOPMed gnomAD
rs1330958007 CA341899143	421	Q>P		No	ClinGen TOPMed
CA1083261 rs587710452	422	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA1083260 rs768291232	423	E>V		No	ClinGen ExAC gnomAD
CA341899098 rs1298490016	427	Q>*		No	ClinGen gnomAD
rs1437512674 CA341899097	427	Q>R		No	ClinGen gnomAD
CA341899073 rs1318060856	430	A>V		No	ClinGen TOPMed gnomAD
CA29499913 rs904822989	432	P>L		No	ClinGen Ensembl
CA1083256 rs749712491	432	P>S		No	ClinGen ExAC TOPMed gnomAD
rs373831013 CA1083254	434	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1083255 COSM1185590 rs761827412	434	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs948991565 CA29499911	436	R>Q		No	ClinGen TOPMed gnomAD
rs370795454 CA1083253	436	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs146551660 COSM205952 CA1083252	437	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs766652221 CA1083249	438	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1083250 rs760596095	438	R>W		No	ClinGen ExAC TOPMed gnomAD
CA341899020 rs1230781603	441	S>T		No	ClinGen gnomAD
rs1558047181 CA341899013	442	L>V		No	ClinGen Ensembl
rs1379913084 CA341898986	444	G>E		No	ClinGen gnomAD
CA341898989 rs1435356031	444	G>R		No	ClinGen gnomAD
CA1083200 rs770653066	446	G>E		No	ClinGen ExAC TOPMed gnomAD
rs773866607 CA1083201	446	G>R		No	ClinGen ExAC gnomAD
CA341898968 rs1452793878	447	A>V		No	ClinGen TOPMed gnomAD
CA1083197 rs201983888	451	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1233555411 CA341898947	451	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1083198 rs201983888	451	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341898944 rs866033020	452	P>A		No	ClinGen gnomAD
CA341898941 rs1474729084	452	P>L		No	ClinGen Ensembl
CA29499899 rs866033020	452	P>S		No	ClinGen gnomAD
CA1083196 rs587667595	453	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA341898939 rs1319530659	453	A>T		No	ClinGen TOPMed
CA341898932 rs1264143276	454	G>E		No	ClinGen gnomAD
rs587724501 CA1083193	454	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341898928 rs778982251	455	E>*		No	ClinGen ExAC gnomAD
COSM1472593 rs778982251 CA1083192	455	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1083191 rs757524284	456	R>C		No	ClinGen ExAC gnomAD
CA1083189 rs777714745	456	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1083190 rs777714745	456	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1083188 rs374453452	457	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA341898917 COSM895662 rs374453452	457	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA29499898 rs1057374052	457	R>W		No	ClinGen gnomAD
CA1083186 rs767625772	458	Q>*		No	ClinGen ExAC gnomAD
CA1083185 rs754411788	459	R>K		No	ClinGen ExAC TOPMed gnomAD
CA1083184 rs370021640	460	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1083182 rs202059139	462	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341898883 rs761099204	463	E>*		No	ClinGen ExAC TOPMed gnomAD
rs761099204 CA1083180	463	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1083179 rs761099204	463	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1571704570 CA341898875	464	S>A		No	ClinGen Ensembl

No associated diseases with Q8N5J2

1 regional properties for Q8N5J2

Type	Name	Position	InterPro Accession
domain	MINDY deubiquitinase domain	143 - 266	IPR033979

Functions

		Description
EC Number	3.4.19.12	Omega peptidases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

4 GO annotations of molecular function

Name	Definition
cysteine-type carboxypeptidase activity	Catalysis of the hydrolysis of a single C-terminal amino acid residue from a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile.
cysteine-type deubiquitinase activity	An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
K48-linked polyubiquitin modification-dependent protein binding	Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 48 in the target protein.
Lys48-specific deubiquitinase activity	Hydrolysis of Lys48-linked ubiquitin unit(s) from a ubiquitinated protein.

1 GO annotations of biological process

Name	Definition
protein K48-linked deubiquitination	A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q76LS9	Mindy1	Ubiquitin carboxyl-terminal hydrolase MINDY-1	Mus musculus (Mouse)	PR
A3KQS4	mindy1	Ubiquitin carboxyl-terminal hydrolase MINDY-1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MEYHQPEDPA	PGKAGTAEAV	IPENHEVLAG	PDEHPQDTDA	RDADGEARER	EPADQALLPS
70	80	90	100	110	120
QCGDNLESPL	PEASSAPPGP	TLGTLPEVET	IRACSMPQEL	PQSPRTRQPE	PDFYCVKWIP
130	140	150	160	170	180
WKGEQTPIIT	QSTNGPCPLL	AIMNILFLQW	KVKLPPQKEV	ITSDELMAHL	GNCLLSIKPQ
190	200	210	220	230	240
EKSEGLQLNF	QQNVDDAMTV	LPKLATGLDV	NVRFTGVSDF	EYTPECSVFD	LLGIPLYHGW
250	260	270	280	290	300
LVDPQSPEAV	RAVGKLSYNQ	LVERIITCKH	SSDTNLVTEG	LIAEQFLETT	AAQLTYHGLC
310	320	330	340	350	360
ELTAAAKEGE	LSVFFRNNHF	STMTKHKSHL	YLLVTDQGFL	QEEQVVWESL	HNVDGDSCFC
370	380	390	400	410	420
DSDFHLSHSL	GKGPGAEGGS	GSPETQLQVD	QDYLIALSLQ	QQQPRGPLGL	TDLELAQQLQ
430	440	450	460
QEEYQQQQAA	QPVRMRTRVL	SLQGRGATSG	RPAGERRQRP	KHESDCILL